Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.
Eur J Med Genet
; 69: 104948, 2024 Jun.
Article
en En
| MEDLINE
| ID: mdl-38735569
ABSTRACT
Anorectal malformations (ARMs) represent a wide spectrum of congenital anomalies of the anus and rectum, of which more than half are syndromic. Their etiology is highly heterogeneous and still poorly understood. We report a 4-year-old girl who initially presented with an isolated ARM, and subsequently developed a global developmental delay as part of an ARID1B-related Coffin-Siris syndrome (CSS). A co-occurrence of ARMs and CSS in an individual by chance is unexpected since both diseases are very rare. A review of the literature enabled us to identify 10 other individuals with both CSS and ARMs. Among the ten individuals reported in this study, 8 had a variant in ARID1A, 2 in ARID1B, and 1 in SMARCA4. This more frequent than expected association between CSS and ARM indicates that some ARMs are most likely part of the CSS spectrum, especially for ARID1A-related CSS.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Factores de Transcripción
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Anomalías Múltiples
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Deformidades Congénitas de la Mano
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Proteínas de Unión al ADN
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Cara
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Malformaciones Anorrectales
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Discapacidad Intelectual
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Micrognatismo
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Cuello
Límite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Arabia Saudita
Pais de publicación:
Países Bajos